Incidental Mutation 'R6808:Tmc1'
ID |
533676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc1
|
Ensembl Gene |
ENSMUSG00000024749 |
Gene Name |
transmembrane channel-like gene family 1 |
Synonyms |
Beethoven, Bth, 4933416G09Rik |
MMRRC Submission |
044921-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R6808 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20772880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 707
(V707D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
AlphaFold |
Q8R4P5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039500
AA Change: V707D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040859 Gene: ENSMUSG00000024749 AA Change: V707D
Domain | Start | End | E-Value | Type |
SCOP:d1eq1a_
|
2 |
95 |
3e-3 |
SMART |
low complexity region
|
129 |
150 |
N/A |
INTRINSIC |
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
low complexity region
|
295 |
302 |
N/A |
INTRINSIC |
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
Pfam:TMC
|
512 |
627 |
2.6e-36 |
PFAM |
transmembrane domain
|
632 |
654 |
N/A |
INTRINSIC |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
738 |
754 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.5189 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
Calcoco1 |
T |
C |
15: 102,618,875 (GRCm39) |
K444E |
probably damaging |
Het |
Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
Eif6 |
T |
C |
2: 155,665,206 (GRCm39) |
Y151C |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
C |
T |
1: 10,004,242 (GRCm39) |
T574I |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
Or52j3 |
T |
G |
7: 102,836,511 (GRCm39) |
D234E |
probably benign |
Het |
Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,258 (GRCm39) |
S58P |
probably damaging |
Het |
Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly damaging |
Het |
|
Other mutations in Tmc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01639:Tmc1
|
APN |
19 |
20,793,556 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02104:Tmc1
|
APN |
19 |
20,809,818 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02245:Tmc1
|
APN |
19 |
20,776,556 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02544:Tmc1
|
APN |
19 |
20,884,327 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02699:Tmc1
|
APN |
19 |
20,809,714 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02974:Tmc1
|
APN |
19 |
20,878,208 (GRCm39) |
missense |
probably benign |
|
IGL03194:Tmc1
|
APN |
19 |
20,782,017 (GRCm39) |
missense |
probably damaging |
1.00 |
dinner_bell
|
UTSW |
19 |
20,772,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R0255:Tmc1
|
UTSW |
19 |
20,766,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0381:Tmc1
|
UTSW |
19 |
20,776,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R0655:Tmc1
|
UTSW |
19 |
20,776,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1496:Tmc1
|
UTSW |
19 |
20,845,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R1542:Tmc1
|
UTSW |
19 |
20,793,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Tmc1
|
UTSW |
19 |
20,803,865 (GRCm39) |
splice site |
probably null |
|
R1777:Tmc1
|
UTSW |
19 |
20,793,473 (GRCm39) |
critical splice donor site |
probably null |
|
R2067:Tmc1
|
UTSW |
19 |
20,801,673 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2152:Tmc1
|
UTSW |
19 |
20,834,039 (GRCm39) |
missense |
probably benign |
0.01 |
R2180:Tmc1
|
UTSW |
19 |
20,801,448 (GRCm39) |
missense |
probably damaging |
0.96 |
R2204:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
R2205:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
R2285:Tmc1
|
UTSW |
19 |
20,767,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R4505:Tmc1
|
UTSW |
19 |
20,845,738 (GRCm39) |
missense |
probably benign |
0.00 |
R4752:Tmc1
|
UTSW |
19 |
20,804,013 (GRCm39) |
missense |
probably benign |
0.35 |
R4975:Tmc1
|
UTSW |
19 |
20,884,319 (GRCm39) |
missense |
probably damaging |
0.96 |
R5040:Tmc1
|
UTSW |
19 |
20,801,394 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5206:Tmc1
|
UTSW |
19 |
20,804,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R5400:Tmc1
|
UTSW |
19 |
20,781,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R5429:Tmc1
|
UTSW |
19 |
20,766,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6200:Tmc1
|
UTSW |
19 |
20,766,954 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6784:Tmc1
|
UTSW |
19 |
20,805,015 (GRCm39) |
critical splice donor site |
probably null |
|
R6796:Tmc1
|
UTSW |
19 |
20,776,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R6812:Tmc1
|
UTSW |
19 |
20,878,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Tmc1
|
UTSW |
19 |
20,772,974 (GRCm39) |
nonsense |
probably null |
|
R6978:Tmc1
|
UTSW |
19 |
20,781,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Tmc1
|
UTSW |
19 |
20,801,647 (GRCm39) |
missense |
probably benign |
0.02 |
R7027:Tmc1
|
UTSW |
19 |
20,918,267 (GRCm39) |
critical splice donor site |
probably null |
|
R7378:Tmc1
|
UTSW |
19 |
20,845,753 (GRCm39) |
missense |
probably damaging |
0.98 |
R7520:Tmc1
|
UTSW |
19 |
20,776,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R7573:Tmc1
|
UTSW |
19 |
20,884,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R7825:Tmc1
|
UTSW |
19 |
20,782,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8024:Tmc1
|
UTSW |
19 |
20,878,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8073:Tmc1
|
UTSW |
19 |
20,845,725 (GRCm39) |
missense |
probably benign |
0.08 |
R8786:Tmc1
|
UTSW |
19 |
20,803,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Tmc1
|
UTSW |
19 |
20,767,209 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Tmc1
|
UTSW |
19 |
20,793,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8973:Tmc1
|
UTSW |
19 |
20,878,215 (GRCm39) |
missense |
probably benign |
|
R9429:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9493:Tmc1
|
UTSW |
19 |
20,801,644 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Tmc1
|
UTSW |
19 |
20,803,870 (GRCm39) |
missense |
probably null |
1.00 |
Z1177:Tmc1
|
UTSW |
19 |
20,801,346 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tmc1
|
UTSW |
19 |
20,772,972 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCATCCTAGGGAGGCAGAG -3'
(R):5'- TCAAAGAGAAACTATGCAGTGTTGG -3'
Sequencing Primer
(F):5'- GACAGATGCAGATGGCTGTGAATC -3'
(R):5'- CTATGCAGTGTTGGAGAAATATTTTG -3'
|
Posted On |
2018-09-12 |